The hereditary hemochromatosis has changed over the time?

Abstract

Background. Being a genetic malady, clinically expressed during the adulthood years and frequently confused with other maladies, this disease creates a substantial medical-social impact. In this study we are approaching the old problem, revealed in 1935 by Sheldon, confronting it with the new clinical observations and scientific data, at the same time we’ll try to define some practical and utile ideas for diverse specialists in the early screening of this disease. The goal and the objectives: the clinical and paraclinical evaluation of the patients with hereditary hemochromatosis and the determination of the evaluative features of these maladies. Material and methods: In the study have been involved 9 patients with hereditary hemochromatosis, who have been identified, during 2014 - 2015, of a sample of 105 patients with hypertransaminazemia and hyperferitinemia. All the patients have been screened for HBV, HCV, alcohol intake, hepatic steatosis. The patients who have had the serum ferritin level higher than 1000ng/ml, have been done the saturation coefficient of transferrin, and those with a coefficient higher than 45 have been tested genetically. Results: there have been identified 9 patients with hemochromatosis (including two brothers), the average age was 43.5 ± 2.4 y.o, men/women-– 8/1, with the bronz skin was 2/9, with VHC positive – 3 patients. Clinically the hepatomegaly has been noticed in 6/9 patients, splenomegaly 2/9, arthralgia 2/9, cardiomyopathies 1/9 pacients. The laboratory paramethers have dentified the high ALT level at 7/9 patients, elevated alkaline phosphatase 3/9, increased total bilirubin – 5/9, hyperglycaemia 2/9, increased serum iron 5/9, anemia 4/9, low seric albumin 4/9. The genetical testing has identified the homozygous mutation for C282Y – 3/9, heterozygous mutation for C282Y 4/9, heterozygous H63D – 2/9. Conclusions: According to our results the hereditary hemochromatosis is necessary to be screened in all the categories of patients, especially with hyperferritinemia higher than 1000 ng/dl and saturation coefficient higher than 45, independently of the patient’s age, the color of his skin, the presence of absence of diabetes or any other extrahepatic manifestations.